Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.
Shoji
Y
Y
Department of Pediatrics, Akita University School of Medicine, Japan.
Takahashi
T
T
Suzuki
Y
Y
Suzuki
T
T
Komatsu
K
K
Hirono
H
H
Shoji
Y
Y
Yokoyama
T
T
Kito
H
H
Takada
G
G
D044503:5-Methylcytosine; D019943:Amino Acid Substitution; D001483:Base Sequence; D003596:Cytosine / Q000031:analogs & derivatives; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003919:Diabetes Insipidus / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017483:Receptors, Vasopressin / Q000235:genetics*; D017384:Sequence Deletion; D014960:X Chromosome / Q000235:genetics*
D017483:Receptors, Vasopressin; D044503:5-Methylcytosine; D003596:Cytosine; D004247:DNA